Transitions

Hi everyone!


I apologize for it being over a month since my last blog post! I try my best to update little things on Facebook and post lots of pictures but I know many people are interested in Jameson's overall health and what's coming up for him. I believe in my last blog update, I mentioned the tethered cord surgery and how that is on the list of possible things to do coming up this year. After much thought and discussion, we've decided to make a trip to the Mayo Clinic in Rochester for an overall health assessment and second opinion on the tethered cord surgery. Currently, Jameson has about 10 different specialists that he sees along with his regular doctors. The plan is to stay in Rochester for a week and see all the different departments along with whatever tests they need to make decisions on what the best treatments are. After that stay, we will have a meeting and discuss if there is anything else we should be doing or any changes to his current medications/therapies. We are very excited to get into the Mayo system not only for the amazing team of doctors they have there but for all the clinical trials and research studies they have at their disposal. It's something I've been thinking about doing for a while and the timing just seemed right.


Speaking of transitions, we had a big meeting a couple weeks ago with the school system therapists and case managers regarding Jameson starting preschool in the fall. It seems so crazy that this little peanut will actually be ready to go to a school 4 days a week but its here and we're finally wrapping our minds around the idea. The program is only for 2 1/2 hours a day, but its still very scary to us! This little man hasn't been out of our sight since he was born, so the thought of trusting someone else enough to care for him the way we do is difficult but needed. I have heard from many other special needs moms that the growth they've seen in their kids once they've gone to school and interacted with others is just amazing. We're very excited to see what this new chapter of Jameson's life will do for his development and overall happiness.


As always, thanks for stopping by and checking to see the latest on everything little man. We appreciate all the love and support that our family has received in these last 2 1/2 years and continues to receive daily. Love to you all!

A busy month

Welcome back and thanks for checking in! The fast-moving train that is Jameson's world of doctors and appointments has continued to move full steam ahead through the beginning of 2016. We enjoyed a little break over the holidays and now we're back to the craziness!


Through the first 4 weeks of the year Jameson has seen nephrology, endocrinology, neurology and neurosurgery. He will be seeing orthopedics and ENT in a couple weeks! It sure is busy but we're so used to it by now that we wouldn't know any different. :-) Little man had a bunch of lab work done to check his kidney function and hormones. His kidney levels came back slightly elevated from a few months ago, but his nephrologist was still very happy with his progress and overall health. His kidney disease will always be there but its something we can always work on managing. It is by no means a reason to be depressed or down, its only another example of how incredibly resilient he is.




Along with the kidney levels, we also found that Jameson has an underactive thyroid that we are now treating with medicine. Since we started this new thyroid medicine, his sleep has gotten much better than it was a couple months ago. It must be his body telling us he's happy about the new treatments!




Last but not least, we had quite a roller coaster of a trip to Minnesota last week. We were able to check many things off of little man's bucket list; riding a carousel, petting a stingray and visiting an aquarium! We also got news from his neurosurgeon that he thinks Jameson needs to have surgery on his spine this year. At first I was really taken aback. I wasn't prepared to hear that and I didn't know how to feel about it. But after taking a few days to let it settle in and talking to his doctors, it became apparent that surgery was the right thing to do.


The surgery they want to do is called a tethered spinal cord release. They believe that part of Jameson's spinal cord is attached to tissue at the bottom on the canal and therefore being pulled tight and causing nerve damage. Typically, an MRI will show this and that's how they diagnose the problem and decide on surgery. But in Jameson's case, his MRI doesn't show a tethered spinal cord. Instead he has all the classic symptoms, like weakness in his legs, issues with his bladder, constipation and scoliosis. The doctor wants to do the surgery to prevent any future damage that could happen and possibly cause chronic back and leg pain. If given the choice between a surgery and hospital stay versus irreversible damage that causes chronic pain, I don't think you have any other decision. When it comes to your child you will do everything you can to make them comfortable and give them the best quality of life possible.




So as always, we have a busy few months ahead of us! Jameson has been doing so well the last 6 months, its pretty amazing to see him learning new things every day. If I can be thankful to God for one thing above all, its for giving little man his sense of comfort in almost everything. He is pleased every single day with just being around his family and playing with his toys. It makes everything worth it when you see happiness in his eyes because he knows how loved he is. :-)

Another year of adventures

What a crazy and amazing 2015! I was just looking back through Facebook posts and images over the last year and was surprised to remember what a roller coaster ride it was. From little man's surgery the second week in January....to our trip to the Children's Hospital of Philadelphia in April....seeing new doctors at the Epilepsy center in MN throughout the year....starting Jameson's bucket list and watching him enjoy all the adventures we've been blessed to take him on....and to top the year off we finally received the results of his whole exome sequencing!


As most of you know, Jameson has been clinically diagnosed with Cornelia deLange Syndrome since he was 9 months old. It was the only diagnosis that his doctors in the NICU suspected when he was born and they made this assumption based on his features and medical issues. (Ex: long eyelashes, lots of hair, low birth weight, reflux, trouble with feedings, small chin, etc) There are 5 known gene mutations that cause CdLS and Jameson has tested negative for all of them, however there is still a decent percentage of kids that have this disorder with no genetic cause found. We ventured to the Children's Hospital of Philadelphia in April to see their doctors that specialize in CdLS and they wanted us to pursue something called a whole exome sequence. This is a blood test from Jameson, myself and Matt that looks for any gene mutation within the 20,000 genes in our body. After 6 long months we finally got the results back right before Christmas, but nothing definitive was found. There were a couple mutations of interest but nothing that explained Jameson's disorder.


This doesn't come as a disappointment or a surprise to our family, as we always knew it was a possibility we wouldn't find anything. It reiterates to us yet again that Jameson is a very special little man and most likely one in a million! :-) We will also always hold on to our diagnosis of CdLS because the groups of parents and caregivers are like a second family to us. There are a couple of programs that I'm looking into now that we might try in the future for children with extremely rare and undiagnosed disorders, one at Mayo and one at the National Institute of Health in Maryland. While part of me feels like I'm always going to want more answers, another part feels like there is never going to be a doctor or researcher that can tell me more about Jameson than myself. And as time goes on, I'm sure that will become more and more of a realization.


As always, we have a busy month coming up after this nice break in November and December! (Pray for no snowstorms!!) The second week in January we will be traveling to the U of Iowa for appointments with Endocrinology, ENT and Nephrology. The week after that we are back up to MN for appointments with our brain doctors! :-)  


I hope everyone is having a safe and enjoyable holiday season! See you all in 2016!